P1.27. BEYOND CEREBRUM AND NEUROSURGERY: A SYSTEMATIC REVIEW ON CHIARI MALFORMATION TYPE I INTEGRATING MOLECULAR AND BEHAVIORAL METHODOLOGIES
Irmak Oezdil1,2, Davide Aprile3, Christian Beste1,4,5
1 Faculty of Psychology, School of Science, TU Dresden, Dresden, Germany
2 Department of Psychotherapy and Psychosomatic Medicine, Faculty of Medicine, TU Dresden, Dresden, Germany
3 Human Technopole, Viale Rita Levi Montalcini 1, 20157 Milan, Italy
4 Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry, Faculty of Medicine, TU Dresden, Dresden, Germany
5 University Neuropsychology Center, Faculty of Medicine, TU Dresden, Dresden, Germany
INTRODUCTION: Chiari malformation type 1 (CM1) radiologically defined as a caudal displacement of cerebellar tonsils exceeding 5 mm through the foramen magnum, represents the most prevalent subtype of Chiari Malformations—a group of developmental disorders characterized by congenital posterior fossa deformities. Given CM1's predominantly asymptomatic or paucisymptomatic clinical course, epidemiological data primarily reflects symptomatic cases, with prevalence traditionally estimated between 0.1% and 1%.
AIM(S): We endeavor to propose a transdisciplinary conceptualization of CM1 that illuminates the cerebellum's extensive non-motor functions.this comprehensive review synthesizes evidence from over 60 original research studies spanning genetics, genomics, neuropsychology, and neuropsychiatry.
METHOD(S): Our analysis deconstructs the genetic, familial, and environmental factors through a framework of "CM1 Equifinality" in disease pathogenesis, methodically investigating its significant co-occurrence with neurodevelopmental and psychiatric conditions—particularly autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) in both syndromic and isolated cases, where behavioral and genomic tools are consistently validating each other,
RESULTS: CM1 frequently presenting alongside functional impairments and problems with self-regulation, as further documented through combined measures of neuropsychology and functional neuroimaging.
CONCLUSIONS: With this work, we want to emphasize the critical need for psychiatric monitoring, neuropsychological interventions, and psychotraumatological implications in high-risk pediatric populations for CM1 within the general population. We also want to highlight how CM1 represents a unique model of study integrating developmental biology, cognition, and psychiatry through a cerebellar lens. We propose CblOs as a potential tool foreseeing the use of 3D in vitro models to recapitulate the cellular and molecular features of ASD and ADHD in CM1.
FINANCIAL SUPPORT: No